Multidisciplinary Expert Meetings

National Multidisciplinary Expert Meetings – “X-linked Adrenoleukodystrophy”

Organizers: Adult Leukodystrophy Reference Center (CRMR), Paris (Prof. Fanny Mochel)

Purpose: Discussion of adult patients with adrenoleukodystrophy to support the diagnosis of cerebral forms of the disease and therapeutic options.

Format: Videoconference

Frequency: Monthly, usually the 3rd Friday of the month, 1:00–3:00 pm

Contact: crmr.leucodystrophies.psl@aphp.fr

 

Regional Multidisciplinary Expert Meetings – “Neurometabolic Imaging”

Organizers: Adult Neurometabolic Reference Center, Paris (Prof. Fanny Mochel)

Purpose: Discussion of adult patients whose imaging may suggest an inherited metabolic disease.

Format: Videoconference

Frequency: Monthly, usually the 1st Friday of the month, 1:00–2:00 pm

Contact: crmr.neurometabolique-adulte.psl@aphp.fr

 

Activities of the G2M Health Network

G2M Diagnostic Tools

Their main aim is to help non-specialist physicians consider a diagnosis of inherited metabolic disease.

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National Diagnostic and Care Protocols (PNDS)

PNDS are rare disease best-practice guidelines. They describe the optimal diagnostic and therapeutic management and care pathway for patients with a given rare disease.

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G2M Emergency Protocols

Emergency protocols from the G2M network are available on their website at the following link:

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G2M Pregnancy Protocols

These guidelines support the management of pregnant women, or women planning pregnancy, affected by an inherited metabolic disorder.

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G2M Treatment Database

Listed alphabetically, each active substance is described with the associated conditions (off-label clinical situations).

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Practical Sheets

Biochemical Test Request Form – Pitié-Salpêtrière Hospital

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Biochemical Test Request Form – Necker–Enfants Malades Hospital

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